Associated Papers
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency.
Walimbe AS et al.
American Journal of Medical Genetics. Part A, 2025
SLC5A6 Mutations in Axonal Sensorimotor Polyneuropathy Patients Concurrent With Sodium Dependent Multivitamin Transporter Deficiency and Improved Effects by Multivitamin Therapy.
Pi BK et al.
Journal of the Peripheral Nervous System : Jpns, 2025
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Montomoli M et al.
European Journal of Medical Genetics, 2023
Sodium-dependent multivitamin transporter defects: a rare cause of recurrent vomiting and faltering growth.
Rupasinghe K et al.
Frontline Gastroenterology, 2023
Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling T et al.
European Journal of Human Genetics : Ejhg, 2022
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.
Hauth I et al.
Cold Spring Harbor Molecular Case Studies, 2022
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
Schwantje M et al.
Jimd Reports, 2019
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
Byrne AB et al.
Npj Genomic Medicine, 2019
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